Linked Data
ClinVar Variation Id:
448972
dbSNP Id:
rs199473668
ExAC:
7:150645543 C / T
gnomAD v2:
7-150645543-C-T
gnomAD v3:
7-150948455-C-T
gnomAD v4:
7-150948455-C-T
COSMIC:
COSM1643279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948455C>T , CM000669.2:g.150948455C>T | GRCh38 |
| NC_000007.13:g.150645543C>T , CM000669.1:g.150645543C>T | GRCh37 |
| NC_000007.12:g.150276476C>T | NCBI36 |
| NG_008916.1:g.34472G>A , LRG_288:g.34472G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3514G>A | ||
| ENST00000262186.10:c.2681G>A MANE Select | ENSP00000262186.5:p.Arg894His | |
| ENST00000330883.9:c.1661G>A | ENSP00000328531.4:p.Arg554His | |
| ENST00000262186.9:c.2681G>A | ENSP00000262186.5:p.Arg894His | |
| ENST00000330883.8:c.1661G>A | ENSP00000328531.4:p.Arg554His | |
| NM_000238.3:c.2681G>A , LRG_288t1:c.2681G>A | NP_000229.1:p.Arg894His | |
| NM_172057.2:c.1661G>A , LRG_288t3:c.1661G>A | NP_742054.1:p.Arg554His | |
| XM_011516185.1:c.2381G>A | XP_011514487.1:p.Arg794His | |
| XM_011516186.1:c.2681G>A | XP_011514488.1:p.Arg894His | |
| XM_011516185.2:c.2381G>A | XP_011514487.1:p.Arg794His | |
| XM_011516186.3:c.2681G>A | XP_011514488.1:p.Arg894His | |
| XM_017012195.1:c.2531G>A | XP_016867684.1:p.Arg844His | |
| XM_017012196.1:c.2504G>A | XP_016867685.1:p.Arg835His | |
| NM_000238.4:c.2681G>A MANE Select | NP_000229.1:p.Arg894His | |
| NM_172057.3:c.1661G>A | NP_742054.1:p.Arg554His |